A Genetic Clog in the Vitamin A Transport Machinery | Zendy

Zhong Ming | Zendy; Hui Sun | Zendy

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A Genetic Clog in the Vitamin A Transport Machinery

Author(s) -

Zhong Ming,

Hui Sun

Publication year - 2015

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2015.04.020

Subject(s) - biology , vitamin , transport protein , retinol binding protein , retinol , receptor , transmembrane protein , mutation , vitamin d binding protein , calcitriol receptor , vitamin d and neurology , vitamin a deficiency , microbiology and biotechnology , genetics , gene , biochemistry , endocrinology

Chou et al. discover a new mode of maternal inheritance by analyzing human mutations in plasma retinol binding protein (RBP). Mechanistically, these mutations simultaneously lower RBP's affinity for vitamin A and greatly increase its affinity for its cell-surface receptor, thus dominantly blocking the transmembrane transport of vitamin A.

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